RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. (DO)
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:132400 ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 1, severe
ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2 ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 2 ClinVar Annotator: match by OMIM:600204
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 3 ClinVar Annotator: match by OMIM:600969 ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with myopathy
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 4 DN A:mutations:intron,exon:-26+2T>C,837C>T(p.R279W)(human) ClinVar Annotator: match by OMIM:226900
ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 5 ClinVar Annotator: match by OMIM:607078
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